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3case of Phenylketonuria with mental retardation, irritability, seizure, eczema, fair skin, mousey odor and positive ferric chloride test in the urine were reported in Korean children for the first time. Two of them were brothers aged 3 years 5 months and 1 year 11 months. Paper chromatography in urine showed increased Phenylalanine level in both of them. They also had... |